Genetic tumor syndromes associated with skin malignancies

2026-10-02   Juan Luis, PhD , Paola Dal Cin, PhD 

1.Centro de Investigación del Cáncer
2.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)

Classification

Definition

Many inherited tumor syndromes have cutaneous manifestations providing critical insights into the important interaction of the genome with the environment, as mediated by genetic susceptibility and dramatically demonstrated by the extreme sensitivity to ultraviolet (UV) radiation seen in xeroderma pigmentosum. The table below contains selected major and well-characterized inherited syndromes specifically associated with malignant tumors of the skin. 

However, there are many benign skin neoplasms encountered that can be associated with tumors with other inherited tumor syndromes , including syndromes associated with internal malignancies. 1,2 See details in (2023) WHO Skin Tumours . 


tumour syndromes associated with skin malignanciesomim
Familial melanomaOMIM:155600
BAP1-related tumour predisposition syndromeOMIM:614327
Xeroderma pigmentosumOMIM:278700
Naevoid basal cell carcinoma syndrome (Gorlin syndrome)OMIM:109400
Carney complexOMIM:160980
Muir-Torre syndromeOMIM:158320
Brooke-Spiegler and related syndromesOMIM:605041

Article Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1290230822017Be vigilant for skin manifestations of inherited cancer syndromes.Tidman AS et al
2411337232025Benign Cutaneous Neoplasms with Syndromic Associations.Lider S et al

Citation

Juan Luis, PhD ; Paola Dal Cin, PhD

Genetic tumor syndromes associated with skin malignancies

Atlas Genet Cytogenet Oncol Haematol. 2026-10-02

Online version: http://atlasgeneticsoncology.org/solid-tumor/209386